The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data

Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype

(2016) Emmanuel Scalais et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry

(2014) Kasiani C. Myers et al.   JOURNAL OF PEDIATRICS

Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome

(2013) Kasiani C. Myers et al.   JOURNAL OF PEDIATRICS

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

(2012) J. Donadieu et al.   HAEMATOLOGICA

Incidence of Shwachman-Diamond syndrome

(2012) Antonella Minelli et al.   PEDIATRIC BLOOD & CANCER

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

(2011) Yigal Dror et al.   Annals of the New York Academy of Sciences

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

(2011) A. J. Finch et al.   GENES & DEVELOPMENT

The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies

(2009) Emanuela Maserati et al.   BRITISH JOURNAL OF HAEMATOLOGY

The Natural History of Shwachman-Diamond Syndrome–Associated Liver Disease from Childhood to Adulthood

(2009) Sanna Toiviainen-Salo et al.   JOURNAL OF PEDIATRICS

The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome

(2009) A Minelli et al.   LEUKEMIA

Totipotent stem cells bearing del(20q) maintain multipotential differentiation in Shwachman Diamond syndrome

(2008) Barbara Crescenzi et al.   BRITISH JOURNAL OF HAEMATOLOGY